Generation of three iPSC lines from two patients with heterozygous FOXF1 mutations associated to Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins.
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101745
Abstract: Diagnosing Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins (ACD/MPV) based on a genetic alteration in the FOXF1 gene, is complicated by the poor understanding of the causal relation between FOXF1 variants and the… read more here.
Keywords: misalignment pulmonary; pulmonary veins; dysplasia misalignment; alveolar capillary ... See more keywords
Two cases of different genetic variants of alveolar capillary dysplasia associated with left-sided obstructive CHDs
Sign Up to like & getrecommendations! Published in 2021 at "Cardiology in the Young"
DOI: 10.1017/s1047951121000676
Abstract: Abstract Alveolar capillary dysplasia with misalignment of the pulmonary veins is an uncommon disorder that affects the lung vasculature development in the neonatal period and leads to pulmonary hypertension. We describe two patients with alveolar… read more here.
Keywords: associated left; alveolar capillary; capillary dysplasia; left sided ... See more keywords
Neonatal Diagnosis of Alveolar Capillary Dysplasia via Rapid Genomic Sequencing: A New Gold Standard?
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DOI: 10.1159/000529439
Abstract: Classic alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare congenital lung disorder presenting in the early neonatal period with refractory hypoxemic respiratory failure and pulmonary hypertension. No curative treatment is currently… read more here.
Keywords: capillary dysplasia; diagnosis; via rapid; genomic sequencing ... See more keywords
Intractable Pulmonary Hypertension in a Late Preterm Neonate: Alveolar Capillary Dysplasia, a Lethal Disease
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DOI: 10.1542/peds.142.1_meetingabstract.147
Abstract: Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins (ACDMPV) is a rare disorder, with only approximately 200 cases reported to date. The most common presentation of ACDMPV is hypoxic respiratory failure, a condition commonly… read more here.
Keywords: pulmonary hypertension; alveolar capillary; capillary dysplasia; late preterm ... See more keywords